Human Gene NECTIN1 (ENST00000264025.8_8) from GENCODE V47lift37
  Description: nectin cell adhesion molecule 1, transcript variant 1 (from RefSeq NM_002855.5)
Gencode Transcript: ENST00000264025.8_8
Gencode Gene: ENSG00000110400.11_11
Transcript (Including UTRs)
   Position: hg19 chr11:119,531,702-119,599,910 Size: 68,209 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr11:119,535,457-119,599,263 Size: 63,807 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:119,531,702-119,599,910)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PVRL1_HUMAN
DESCRIPTION: RecName: Full=Poliovirus receptor-related protein 1; AltName: Full=Herpes virus entry mediator C; Short=Herpesvirus entry mediator C; Short=HveC; AltName: Full=Herpesvirus Ig-like receptor; Short=HIgR; AltName: Full=Nectin-1; AltName: CD_antigen=CD111; Flags: Precursor;
FUNCTION: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4.
SUBUNIT: Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 (HHV-1), herpes simplex virus 2 (HHV-2), and pseudorabies virus (PRV) envelope glycoprotein D; functions as an entry receptor for these viruses.
INTERACTION: Q9NQS3:PVRL3; NbExp=2; IntAct=EBI-1771314, EBI-2826725; Q96NY8:PVRL4; NbExp=2; IntAct=EBI-1771314, EBI-4314784;
SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform Delta: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform Gamma: Secreted.
DISEASE: Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
DISEASE: Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two- third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
SIMILARITY: Belongs to the nectin family.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=CAA53980.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NECTIN1
Diseases sorted by gene-association score: cleft lip/palate-ectodermal dysplasia syndrome* (1018), zlotogora syndrome* (400), herpes simplex (90), cleft lip (27), cleft lip/palate* (27), cleft lip and alveolus* (18), ectodermal dysplasia (17), isolated cleft lip* (14), kidney sarcoma (11), orofacial cleft (10), cleft palate, isolated (10), meningothelial meningioma (9), acute retinal necrosis syndrome (6), chlamydia (3)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 70.00 RPKM in Esophagus - Mucosa
Total median expression: 421.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -359.40647-0.555 Picture PostScript Text
3' UTR -1479.503755-0.394 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013162 - CD80_C2-set
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set
IPR003596 - Ig_V-set_subgr

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07686 - Immunoglobulin V-set domain
PF08205 - CD80-like C2-set immunoglobulin domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3ALP - X-ray MuPIT 3SKU - X-ray MuPIT 3U82 - X-ray MuPIT 3U83 - X-ray MuPIT 4FMF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15223
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0015026 coreceptor activity
GO:0030246 carbohydrate binding
GO:0038023 signaling receptor activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046790 virion binding
GO:0046982 protein heterodimerization activity
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0002089 lens morphogenesis in camera-type eye
GO:0002934 desmosome organization
GO:0006826 iron ion transport
GO:0006955 immune response
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007165 signal transduction
GO:0007411 axon guidance
GO:0008037 cell recognition
GO:0016032 viral process
GO:0019062 virion attachment to host cell
GO:0034332 adherens junction organization
GO:0046718 viral entry into host cell
GO:0048593 camera-type eye morphogenesis
GO:0051963 regulation of synapse assembly
GO:0060041 retina development in camera-type eye
GO:0070166 enamel mineralization
GO:0098609 cell-cell adhesion
GO:1902414 protein localization to cell junction

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016342 catenin complex
GO:0030054 cell junction
GO:0030424 axon
GO:0032584 growth cone membrane
GO:0042734 presynaptic membrane
GO:0043005 neuron projection
GO:0043231 intracellular membrane-bounded organelle
GO:0043296 apical junction complex
GO:0044291 cell-cell contact zone
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  AF110314 - Homo sapiens herpesvirus immunoglobulin-like receptor HIgR mRNA, complete cds.
LF208445 - JP 2014500723-A/15948: Polycomb-Associated Non-Coding RNAs.
BC113471 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C), mRNA (cDNA clone MGC:142031 IMAGE:8322523), complete cds.
BC104948 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C), mRNA (cDNA clone MGC:132608 IMAGE:8143951), complete cds.
HQ258297 - Synthetic construct Homo sapiens clone IMAGE:100072606 poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1) gene, encodes complete protein.
KJ891955 - Synthetic construct Homo sapiens clone ccsbBroadEn_01349 PVRL1 gene, encodes complete protein.
KR711576 - Synthetic construct Homo sapiens clone CCSBHm_00027153 PVRL1 (PVRL1) mRNA, encodes complete protein.
KR711577 - Synthetic construct Homo sapiens clone CCSBHm_00027154 PVRL1 (PVRL1) mRNA, encodes complete protein.
KR711578 - Synthetic construct Homo sapiens clone CCSBHm_00027156 PVRL1 (PVRL1) mRNA, encodes complete protein.
X76400 - Homo sapiens mRNA for nectin 1 (PRR1 gene).
AF060231 - Homo sapiens herpesvirus entry protein C (HVEC) mRNA, complete cds.
AB527890 - Synthetic construct DNA, clone: pF1KB0475, Homo sapiens PVRL1 gene for poliovirus receptor-related protein 1, without stop codon, in Flexi system.
MA444022 - JP 2018138019-A/15948: Polycomb-Associated Non-Coding RNAs.
BC086309 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin), mRNA (cDNA clone IMAGE:6106742).
BC064140 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin), mRNA (cDNA clone IMAGE:6199960).
BC044230 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin), mRNA (cDNA clone IMAGE:5497494).
BC021976 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin), mRNA (cDNA clone IMAGE:3947125).
BC007379 - Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin), mRNA (cDNA clone IMAGE:3641285).
AK091231 - Homo sapiens cDNA FLJ33912 fis, clone CTONG2013372.
AX746863 - Sequence 388 from Patent EP1308459.
AK056455 - Homo sapiens cDNA FLJ31893 fis, clone NT2RP7003632.
AK095375 - Homo sapiens cDNA FLJ38056 fis, clone CTONG2014697.
LF376317 - JP 2014500723-A/183820: Polycomb-Associated Non-Coding RNAs.
LF376316 - JP 2014500723-A/183819: Polycomb-Associated Non-Coding RNAs.
LF376315 - JP 2014500723-A/183818: Polycomb-Associated Non-Coding RNAs.
LF376314 - JP 2014500723-A/183817: Polycomb-Associated Non-Coding RNAs.
LF376313 - JP 2014500723-A/183816: Polycomb-Associated Non-Coding RNAs.
MA611894 - JP 2018138019-A/183820: Polycomb-Associated Non-Coding RNAs.
MA611893 - JP 2018138019-A/183819: Polycomb-Associated Non-Coding RNAs.
MA611892 - JP 2018138019-A/183818: Polycomb-Associated Non-Coding RNAs.
MA611891 - JP 2018138019-A/183817: Polycomb-Associated Non-Coding RNAs.
MA611890 - JP 2018138019-A/183816: Polycomb-Associated Non-Coding RNAs.
AY029539 - Homo sapiens soluble nectin1 gamma mRNA, complete cds.
LF376309 - JP 2014500723-A/183812: Polycomb-Associated Non-Coding RNAs.
LF376308 - JP 2014500723-A/183811: Polycomb-Associated Non-Coding RNAs.
LF376307 - JP 2014500723-A/183810: Polycomb-Associated Non-Coding RNAs.
LF376305 - JP 2014500723-A/183808: Polycomb-Associated Non-Coding RNAs.
LF376304 - JP 2014500723-A/183807: Polycomb-Associated Non-Coding RNAs.
LF376303 - JP 2014500723-A/183806: Polycomb-Associated Non-Coding RNAs.
LF212270 - JP 2014500723-A/19773: Polycomb-Associated Non-Coding RNAs.
LF376286 - JP 2014500723-A/183789: Polycomb-Associated Non-Coding RNAs.
MA611886 - JP 2018138019-A/183812: Polycomb-Associated Non-Coding RNAs.
MA611885 - JP 2018138019-A/183811: Polycomb-Associated Non-Coding RNAs.
MA611884 - JP 2018138019-A/183810: Polycomb-Associated Non-Coding RNAs.
MA611882 - JP 2018138019-A/183808: Polycomb-Associated Non-Coding RNAs.
MA611881 - JP 2018138019-A/183807: Polycomb-Associated Non-Coding RNAs.
MA611880 - JP 2018138019-A/183806: Polycomb-Associated Non-Coding RNAs.
MA447847 - JP 2018138019-A/19773: Polycomb-Associated Non-Coding RNAs.
MA611863 - JP 2018138019-A/183789: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15223 (Reactome details) participates in the following event(s):

R-HSA-420582 Necl-1:Nectin-1 trans heterodimer interaction
R-HSA-420580 Nectin-1:PVRL3 trans heterodimer formation
R-HSA-420598 Nectin-1:Nectin-4 trans heterodimer formation
R-HSA-419003 Interaction of Nectins with Afadin
R-HSA-433711 Cis-homodimerization of nectins
R-HSA-419011 Transhomodimerization of Nectins
R-HSA-420597 Nectin/Necl trans heterodimerization
R-HSA-418990 Adherens junctions interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000264025.1, ENST00000264025.2, ENST00000264025.3, ENST00000264025.4, ENST00000264025.5, ENST00000264025.6, ENST00000264025.7, HVEC, NECT1_HUMAN, NECTIN1 , NM_002855, O75465, PRR1, PVRL1, Q15223, Q2M3D3, Q9HBE6, Q9HBW2, uc317hoj.1, uc317hoj.2
UCSC ID: ENST00000264025.8_8
RefSeq Accession: NM_002855.5
Protein: Q15223 (aka PVRL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.